Variant report

Variant	rs1246022
Chromosome Location	chr1:95223808-95223809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95219225..95221753-chr1:95222349..95224941,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11165274	1.00[JPT][hapmap]
rs1146267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2781130	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802094	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2991286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818929	1.00[JPT][hapmap]
rs4847368	1.00[JPT][hapmap]
rs4847371	1.00[JPT][hapmap]
rs6670825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9432570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9432571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95218600-95224400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:95218800-95224000	Enhancers	NHDF-Ad	bronchial
3	chr1:95218800-95224000	Enhancers	NHLF	lung
4	chr1:95219600-95225400	Enhancers	HepG2	liver
5	chr1:95221200-95224000	Enhancers	Placenta	Placenta
6	chr1:95221200-95224200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:95221400-95224000	Enhancers	Ovary	ovary
8	chr1:95221400-95234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:95221600-95239000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:95222000-95234000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:95222200-95224200	Enhancers	Pancreas	Pancrea
12	chr1:95223000-95224000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:95223000-95224000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:95223000-95224000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:95223000-95224000	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:95223000-95224400	Enhancers	Fetal Kidney	kidney
17	chr1:95223000-95225400	Enhancers	Liver	Liver
18	chr1:95223200-95224000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:95223200-95224000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:95223200-95224000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:95223400-95224000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:95223600-95224000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:95223800-95224400	Enhancers	Osteobl	bone
24	chr1:95223800-95241600	Weak transcription	Aorta	Aorta

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